A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv433



Internal ID15202342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35582457..35627412hg38UCSC Ensembl
Outerchr1:36048058..36093013hg19UCSC Ensembl
Outerchr1:35820645..35865600hg18UCSC Ensembl
Outerchr1:35717151..35762106hg17UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3844956
hg1944956
hg1844956
hg1744956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9000
SamplesNA12156
Known GenesPSMB2, TFAP2E
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv433
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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